Search results for zic1

171 hits were found for zic1

# Family MCID Name MIFTS Score
1
c CRN256 Craniosynostosis 6 24 35.464
2
STR112 Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis 23 29.337
3
NRL016 Neural Tube Defects 80 19.578
4
P MDL005 Medulloblastoma 75 18.889
5
P CRN037 Craniosynostosis 67 16.974
6
P HLP001 Holoprosencephaly 68 14.955
7
P MCR010 Microcephaly 59 14.220
8
P SCL018 Scoliosis 57 13.373
9
SYN005 Synostosis 43 11.755
10
LRN003 Learning Disability 49 11.755
11
CRB027 Cerebellar Disease 47 10.800
12
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 56 8.894
13
P PRT042 Parietal Foramina 51 8.579
14
STH001 Saethre-Chotzen Syndrome 65 8.579
15
ISL061 Isolated Brachycephaly 29 8.027
16
ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 9 8.027
17
ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 9 8.027
18
ISL087 Isolated Oxycephaly 36 8.027
19
ISL062 Isolated Plagiocephaly 37 8.027
20
P HRM001 Hermansky-Pudlak Syndrome 65 7.679
21
c HLP028 Holoprosencephaly 5 48 7.534
22
P WRD001 Waardenburg's Syndrome 60 7.534
23
CLP002 Colpocephaly 22 7.534
24
PRN033 Paraneoplastic Neurologic Disorders 31 7.534
25
P GST053 Gastric Cancer 82 2.362
26
P BRS047 Breast Cancer 97 2.301
27
CRB209 Cerebellar Malformation 23 2.044
28
DND001 Dandy-Walker Syndrome 48 1.817
29
P PNC035 Pancreatic Cancer 87 1.743
30
P HYP265 Hypotonia 42 1.573
31
HLX001 Helix Syndrome 47 1.518
32
P JBR020 Joubert Syndrome 1 74 1.478
33
SPN221 Spina Bifida Occulta 39 1.434
34
P PTS002 Ptosis 52 1.411
35
EPC005 Epicanthus 35 1.411
36
BLP004 Blepharophimosis 36 1.411
37
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.386
38
END057 Endometrial Cancer 76 1.251
39
CRV002 Cervix Uteri Carcinoma in Situ 48 1.251
40
CRV045 Cervical Intraepithelial Neoplasia 38 1.251
41
SQM006 Squamous Cell Carcinoma 59 1.212
42
CRV038 Cervical Squamous Cell Carcinoma 56 1.212
43
P BNG032 Benign Mesothelioma 53 1.170
44
MLG079 Malignant Pleural Mesothelioma 42 1.170
45
P HPT023 Hepatocellular Carcinoma 95 1.124
46
P CRB045 Cerebellar Hypoplasia 40 1.124
47
LNG039 Lung Squamous Cell Carcinoma 57 1.106
48
LNG012 Lung Occult Squamous Cell Carcinoma 20 1.106
49
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 20 1.106
50
P LPS002 Liposarcoma 64 1.100
51
MYX005 Myxoid Liposarcoma 65 1.073
52
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.073
53
CLL004 Cellular Myxoid Liposarcoma 30 1.073
54
BRT054 Brittle Bone Disorder 74 1.045
55
c OST080 Osteogenesis Imperfecta, Type Ii 55 1.045
56
OST015 Osteochondrodysplasia 60 1.045
57
GLB002 Glioblastoma 67 1.045
58
TTH004 Tethered Spinal Cord Syndrome 40 1.045
59
DSM004 Desmoid Tumor 65 1.045
60
P HYP035 Hypophosphatasia 61 1.045
61
P SPN237 Spina Bifida Aperta 19 0.941
62
MCR037 Macroglossia 44 0.895
63
ORL011 Oral Cancer 60 0.895
64
GLM045 Glioma 62 0.852
65
c SPN101 Spinocerebellar Ataxia 29 58 0.836
66
PTH003 Pathologic Nystagmus 52 0.836
67
MNN043 Meningioma, Familial 79 0.772
68
CKT002 Cakut 48 0.573
69
BRN032 Brain Glioma 45 0.433
70
GLL048 Glial Tumor 51 0.433
71
c MSM022 Mismatch Repair Cancer Syndrome 1 69 0.418
72
SQM013 Squamous Cell Carcinoma, Head and Neck 75 0.418
73
ESP021 Esophageal Cancer 84 0.418
74
P GLM040 Glioma Susceptibility 1 70 0.418
75
P OLG002 Oligodendroglioma 66 0.418
76
P LNG021 Lung Occult Small Cell Carcinoma 20 0.418
77
LNG019 Lung Combined Type Small Cell Carcinoma 34 0.418
78
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.418
79
P LSS002 Lissencephaly 52 0.409
80
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.354
81
SCR001 Secretory Meningioma 40 0.354
82
INT395 Intracranial Meningioma 47 0.354
83
WSC001 Wisconsin Syndrome 7 0.354
84
SYN106 Syndromic Craniosynostosis 35 0.323
85
RHM015 Rhombencephalosynapsis 29 0.323
86
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.289
87
P OVR042 Ovarian Cancer 88 0.250
88
ANS011 Anus Cancer 55 0.250
89
P CRB059 Cerebellar Degeneration 36 0.250
90
CBB005 Cobblestone Lissencephaly 31 0.250
91
P BLD134 Bladder Cancer 79 0.204
92
P MLT020 Multiple Sclerosis 79 0.204
93
CRV035 Cervical Cancer 72 0.204
94
HLC007 Helicobacter Pylori Infection 67 0.204
95
P MLT008 Multinodular Goiter 41 0.204
96
P HYP086 Hypothyroidism 68 0.204
97
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.204
98
SPN035 Spindle Cell Sarcoma 51 0.204
99
GTR002 Goiter 52 0.204
100
P GRV001 Graves' Disease 54 0.204
101
SRC014 Sarcoma 64 0.204
102
CRB004 Cerebral Artery Occlusion 45 0.204
103
P KLL001 Kallmann Syndrome 65 0.204
104
P HYP076 Hyperthyroidism 53 0.204
105
PRN032 Paraneoplastic Cerebellar Degeneration 25 0.204
106
EMB007 Embryonal Sarcoma 40 0.204
107
P SMP003 Simpson-Golabi-Behmel Syndrome 49 0.204
108
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.144
109
c MJR022 Major Affective Disorder 8 37 0.144
110
SWN003 Sweeney-Cox Syndrome 39 0.144
111
BHR002 Bohring-Opitz Syndrome 48 0.144
112
P SCH015 Schizophrenia 74 0.144
113
ELL001 Ellis-Van Creveld Syndrome 61 0.144
114
CTR172 Citrullinemia, Classic 64 0.144
115
P NNN008 Noonan Syndrome 1 76 0.144
116
CLB010 Coloboma of Macula 53 0.144
117
EHL052 Ehlers-Danlos Syndrome, Vascular Type 63 0.144
118
P ART028 Aortic Aneurysm, Familial Thoracic 4 61 0.144
119
c NML003 Nemaline Myopathy 2 51 0.144
120
MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 40 0.144
121
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.144
122
AGN016 Aging 53 0.144
123
ATS010 Autosomal Recessive Disease 42 0.144
124
EWN003 Ewing Sarcoma 69 0.144
125
c MJR024 Major Affective Disorder 9 40 0.144
126
P PLM037 Pulmonary Hypertension 69 0.144
127
c HRM008 Hermansky-Pudlak Syndrome 5 46 0.144
128
c HRM009 Hermansky-Pudlak Syndrome 6 46 0.144
129
P OCL002 Oculocutaneous Albinism 59 0.144
130
CHR103 Charge Syndrome 65 0.144
131
MLN073 Melanosis, Neurocutaneous 45 0.144
132
c HRM006 Hermansky-Pudlak Syndrome 3 43 0.144
133
c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27 0.144
134
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 0.144
135
c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28 0.144
136
OBS015 Obesity, Hyperphagia, and Developmental Delay 35 0.144
137
MRF001 Marfan Syndrome 76 0.144
138
MRF007 Marfanoid Hypermobility Syndrome 49 0.144
139
c OPT053 Optic Atrophy 1 62 0.144
140
JCB001 Jacobsen Syndrome 50 0.144
141
P PHC003 Pheochromocytoma 70 0.144
142
P PTT014 Pitt-Hopkins Syndrome 63 0.144
143
ADR040 Adrenal Gland Pheochromocytoma 45 0.144
144
SYN090 Syndromic X-Linked Intellectual Disability Turner Type 30 0.144
145
P TCD001 Tic Disorder 50 0.144
146
WLL039 Well-Differentiated Liposarcoma 44 0.144
147
P NML001 Nemaline Myopathy 49 0.144
148
P BPL003 Bipolar Disorder 56 0.144
149
P EHL001 Ehlers-Danlos Syndrome 57 0.144
150
P ADN016 Adenocarcinoma 63 0.144
151
P MYP004 Myopathy 67 0.144
152
P LPM005 Lipomatosis 47 0.144
153
P HYD006 Hydrocephalus 62 0.144
154
DDF001 Dedifferentiated Liposarcoma 49 0.144
155
P BRN006 Branchiootorenal Syndrome 51 0.144
156
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.144
157
GST040 Gastric Adenocarcinoma 66 0.144
158
OCL010 Ocular Hypotension 37 0.144
159
HTR003 Heterotaxy 43 0.144
160
CRN088 Craniorachischisis 35 0.144
161
FTT001 Fatty Liver Disease 61 0.144
162
ALB002 Albinism 46 0.144
163
47X002 47,xyy 47 0.144
164
UTR043 Uterine Sarcoma 40 0.144
165
XLN179 X-Linked Intellectual Disability, Turner Type 19 0.144
166
c PSD047 Pseudo-Turner Syndrome 52 0.144
167
RTR012 Retroperitoneal Liposarcoma 23 0.144
168
SFT003 Soft Tissue Sarcoma 43 0.144
169
P FML364 Familial Thoracic Aortic Aneurysm and Aortic Dissection 70 0.144
170
HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 37 0.144
171
HYP266 Hypoxia 56 0.144
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